The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of... See more...

Aliases for ARAP1 Gene

Aliases for ARAP1 Gene

  • ArfGAP With RhoGAP Domain, Ankyrin Repeat And PH Domain 1 2 3 5
  • Arf-GAP With Rho-GAP Domain, ANK Repeat And PH Domain-Containing Protein 1 3 4
  • Centaurin-Delta-2 3 4
  • Cnt-D2 3 4
  • CENTD2 3 4
  • ARF-GAP, RHO-GAP, Ankyrin Repeat, And Pleckstrin Homology Domains-Containing Protein 1 3
  • Centaurin, Delta 2 2
  • KIAA0782 4

External Ids for ARAP1 Gene

Previous HGNC Symbols for ARAP1 Gene

  • CENTD2

Previous GeneCards Identifiers for ARAP1 Gene

  • GC11M072073
  • GC11M072396
  • GC11M068691

Summaries for ARAP1 Gene

Entrez Gene Summary for ARAP1 Gene

  • The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

GeneCards Summary for ARAP1 Gene

ARAP1 (ArfGAP With RhoGAP Domain, Ankyrin Repeat And PH Domain 1) is a Protein Coding gene. Diseases associated with ARAP1 include Kidney Hypertrophy. Among its related pathways are Signaling by PTK6 and Regulation of RhoA activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and type 1 angiotensin receptor binding. An important paralog of this gene is ARAP2.

UniProtKB/Swiss-Prot Summary for ARAP1 Gene

  • Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity).

Gene Wiki entry for ARAP1 Gene

Additional gene information for ARAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARAP1 Gene

Genomics for ARAP1 Gene

GeneHancer (GH) Regulatory Elements for ARAP1 Gene

Promoters and enhancers for ARAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARAP1 gene promoter:
  • AhR
  • AP-4
  • AREB6
  • Chx10
  • CREB
  • deltaCREB
  • PPAR-alpha
  • RREB-1
  • SREBP-1a
  • SREBP-1b

Genomic Locations for ARAP1 Gene

Genomic Locations for ARAP1 Gene
chr11:72,685,069-72,793,599
(GRCh38/hg38)
Size:
108,531 bases
Orientation:
Minus strand
chr11:72,396,114-72,504,644
(GRCh37/hg19)
Size:
108,531 bases
Orientation:
Minus strand

Genomic View for ARAP1 Gene

Genes around ARAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARAP1 Gene

Proteins for ARAP1 Gene

  • Protein details for ARAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P48-ARAP1_HUMAN
    Recommended name:
    Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1
    Protein Accession:
    Q96P48
    Secondary Accessions:
    • A3KLL7
    • B2RTS2
    • O94879
    • Q4LDD5
    • Q59FI7
    • Q6PHS3
    • Q8WU51
    • Q96HP6
    • Q96L71

    Protein attributes for ARAP1 Gene

    Size:
    1450 amino acids
    Molecular mass:
    162192 Da
    Quaternary structure:
    • Interacts with TNFRSF10A.
    SequenceCaution:
    • Sequence=BAA34502.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92710.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARAP1 Gene

    Alternative splice isoforms for ARAP1 Gene

neXtProt entry for ARAP1 Gene

Post-translational modifications for ARAP1 Gene

  • Ubiquitination at Lys871
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARAP1 Gene

Domains & Families for ARAP1 Gene

Suggested Antigen Peptide Sequences for ARAP1 Gene

GenScript: Design optimal peptide antigens:
  • Centaurin-delta-2 (ARAP1_HUMAN)
  • ARAP1 protein (B7ZMI2_HUMAN)
genes like me logo Genes that share domains with ARAP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARAP1 Gene

Function for ARAP1 Gene

Molecular function for ARAP1 Gene

UniProtKB/Swiss-Prot Function:
Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity).

Phenotypes From GWAS Catalog for ARAP1 Gene

Gene Ontology (GO) - Molecular Function for ARAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA,IEA 11804590
GO:0005515 protein binding IPI 15607035
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IEA,IDA 11804589
GO:0031702 type 1 angiotensin receptor binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARAP1: view
genes like me logo Genes that share phenotypes with ARAP1: view

Animal Models for ARAP1 Gene

MGI Knock Outs for ARAP1:
  • Arap1 Arap1<tm1b(EUCOMM)Wtsi>
  • Arap1 Arap1<tm1(NCOM)Cmhd>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARAP1 Gene

Localization for ARAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARAP1 Gene

Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Cell membrane. Note=Associated with Golgi stacks in resting cells. Throughout the cytoplasm and in surface protrusion in cells that are in the process of attaching to a surface and spreading.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARAP1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
nucleus 4
cytosol 4
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IBA,IDA 11804590
GO:0005802 trans-Golgi network IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARAP1: view

Pathways & Interactions for ARAP1 Gene

genes like me logo Genes that share pathways with ARAP1: view

Pathways by source for ARAP1 Gene

1 KEGG pathway for ARAP1 Gene
1 GeneTex pathway for ARAP1 Gene

Gene Ontology (GO) - Biological Process for ARAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling IEA --
GO:0007165 signal transduction IEA --
GO:0008360 regulation of cell shape IMP 11804590
GO:0030037 actin filament reorganization involved in cell cycle TAS 11804590
GO:0043547 positive regulation of GTPase activity IEA,IDA 11804590
genes like me logo Genes that share ontologies with ARAP1: view

No data available for SIGNOR curated interactions for ARAP1 Gene

Drugs & Compounds for ARAP1 Gene

No Compound Related Data Available

Transcripts for ARAP1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4: - - - - -
SP5: - - -
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

ExUns: 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b
SP1: - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ARAP1 Gene

GeneLoc Exon Structure for
ARAP1
ECgene alternative splicing isoforms for
ARAP1

Expression for ARAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARAP1 Gene

mRNA differential expression in normal tissues according to GTEx for ARAP1 Gene

This gene is overexpressed in Whole Blood (x8.9).

Protein differential expression in normal tissues from HIPED for ARAP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.6) and Lymph node (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARAP1 Gene



Protein tissue co-expression partners for ARAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARAP1 Gene:

ARAP1

SOURCE GeneReport for Unigene cluster for ARAP1 Gene:

Hs.503165

mRNA Expression by UniProt/SwissProt for ARAP1 Gene:

Q96P48-ARAP1_HUMAN
Tissue specificity: Detected in heart, skeletal muscle, spleen, kidney, liver, placenta, lung, peripheral blood leukocytes, adrenal gland, bone marrow, brain, lymph node, mammary gland, prostate, spinal cord, stomach, thyroid and trachea.

Evidence on tissue expression from TISSUES for ARAP1 Gene

  • Nervous system(4.5)
  • Pancreas(4.4)
  • Blood(2.4)
genes like me logo Genes that share expression patterns with ARAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARAP1 Gene

Orthologs for ARAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARAP1 33 32
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARAP1 33 32
  • 88.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARAP1 33 32
  • 88.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arap1 17 33 32
  • 85.79 (n)
rat
(Rattus norvegicus)
Mammalia Arap1 32
  • 85.6 (n)
oppossum
(Monodelphis domestica)
Mammalia ARAP1 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARAP1 33
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARAP1 33
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ARAP1 (4 of 4) 33
  • 65 (a)
OneToMany
LOC100332526 32
  • 63.11 (n)
ARAP1 (3 of 4) 33
  • 60 (a)
OneToMany
ARAP1 (2 of 4) 33
  • 59 (a)
OneToMany
ARAP1 (1 of 4) 33
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP15B 33
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F23H11.4 33
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE1 33
  • 20 (a)
OneToMany
Species where no ortholog for ARAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ARAP1 Gene

ENSEMBL:
Gene Tree for ARAP1 (if available)
TreeFam:
Gene Tree for ARAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARAP1: view image

Paralogs for ARAP1 Gene

(7) SIMAP similar genes for ARAP1 Gene using alignment to 7 proteins:

  • ARAP1_HUMAN
  • B7ZMI2_HUMAN
  • E7EU13_HUMAN
  • F5GWN4_HUMAN
  • F5GWQ2_HUMAN
  • F8WBT0_HUMAN
  • H0YGD1_HUMAN
genes like me logo Genes that share paralogs with ARAP1: view

Variants for ARAP1 Gene

Sequence variations from dbSNP and Humsavar for ARAP1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000050264 -- 72,715,892(-) G/T intron_variant
rs1000112103 -- 72,712,890(-) C/T intron_variant
rs1000130887 -- 72,731,020(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000182848 -- 72,713,961(-) T/C/G intron_variant
rs1000208604 -- 72,713,030(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARAP1 Gene

Variant ID Type Subtype PubMed ID
dgv2006n54 CNV loss 21841781
esv3579742 CNV loss 25503493
nsv468636 CNV loss 19166990
nsv523601 CNV loss 19592680
nsv555409 CNV loss 21841781
nsv832207 CNV loss 17160897

Variation tolerance for ARAP1 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.39; 88.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARAP1 Gene

Human Gene Mutation Database (HGMD)
ARAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARAP1 Gene

Disorders for ARAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARAP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
kidney hypertrophy
  • hypertrophy of kidney
- elite association - COSMIC cancer census association via MalaCards
Search ARAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARAP1 Gene

Publications for ARAP1 Gene

  1. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PMID: 21873549) Strawbridge RJ … Florez JC (Diabetes 2011) 3 43 56
  2. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. (PMID: 20581827) Voight BF … GIANT Consortium (Nature genetics 2010) 3 43 56
  3. Arf and Rho GAP adapter protein ARAP1 participates in the mobilization of TRAIL-R1/DR4 to the plasma membrane. (PMID: 18165900) Símová S … Andera L (Apoptosis : an international journal on programmed cell death 2008) 3 4 56
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for ARAP1 Gene

Sources for ARAP1 Gene